The current model for delivering genetic testing for BRCA genes in North America was developed in the mid-1990s, at a time when genetic testing was expensive and the clinical benefits were largely unproven. In this model, women are referred by their physicians to a specialized cancer genetics clinic where a formal assessment is conducted. If the risk estimate for carrying a mutation exceeds a threshold value (usually 10%) then genetic testing for the BRCA genes ensues. If not, then the women is reassured and she is sent off with a number of recommendations based on her personal and family history of cancer.

 

We believe the current model is outdated and propose an alternate model based on direct-to- consumer, population-based testing, for the following reasons. First, a significant proportion of BRCA mutation carriers do not reach the ten percent threshold and are therefore missed opportunities who fail to be identified. In addition, many individuals who do qualify for genetic testing fail to be  identified and referred by their health care provider. Second, since women with cancer diagnosis are more likely to have a mutation than women without cancer, the majority of individuals with a mutation in Canada and the United States will not be eligible for testing until they have a personal cancer diagnosis. This may be cost-efficient, but it is not helpful if our purpose is to prevent cancer in high-risk women. Third, for affected patients, genetic testing is offered through the genetics clinic and is usually delayed until well after diagnosis and the results are not used to guide treatment.

 

We propose to consider offering genetic testing for BRCA1 and BRCA2 to all women and men who wish to be tested, using an internet-based system. Pretest genetic counselling could be web-based. Face-to-face genetic counselling could be limited to the small percentage of women who are identified as mutation carriers. We are not necessarily asking the government or insurance companies to pay if the test can be done for 200 dollars, as this is within reach for most individuals. We foresee that with this unrestricted model, there will be a greater number of mutation carriers detected in the population, and a higher proportion of mutation carriers will be identified before they are diagnosed with cancer.  These women will be able to take advantage of preventive surgeries and MRI screening.  

 

With these goals in mind, we launched the Screen Project in March 2017 to evaluate population-based genetic testing for BRCA mutations in Canada. We now offer testing to all Canadian women and men who are 18 years of age or older. We use a guided direct-to-consumer (DTC) approach for enrolling individuals through the study website (www.thescreenproject.ca).   We are testing for BRCA1 and BRCA2 only. All individuals with a pathogenic mutation in either gene will be contacted by our team of genetic counsellors in person or by telephone to discuss their options for cancer prevention. Our team will also facilitate a referral to a local genetics clinic for long-term follow-up. We will evaluate the feasibility and also the interest and yield of genetic testing for BRCA mutations in Canada if offered direct-to-consumer at a minimum charge, through dissemination of a population-based genetic test for the BRCA genes. We hope to build a cost-effective strategy for decreasing the incidence of and mortality from some of the most common cancers in Canada.

 

Project Website: www.thescreenproject.ca